Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB3
Variant:p.D204N

PFKFB3

89 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls ...

Pfam Domains

6PF2Kaa 24–246UCSC6-phosphofructo-2-kinase
His_Phos_1aa 249–435UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004566.4
p.D204N
c.610G>A
Surrounding Variants
1 paper
NM_004566.4
p.D204A
c.611A>C
1 paper
NM_004566.4
p.C206Y
c.617G>A
2 papers
NM_004566.4
p.S197R
c.591C>A
2 papers
NM_004566.4
p.S197R
c.591C>G
2 papers
NM_004566.4
p.S197R
c.589A>C
1 paper
NM_004566.4
p.R190R
c.570G>A
2 papers
NM_004566.4
p.D177N
c.529G>A
1 paper
NM_004566.4
p.V224V
c.672G>A
1 paper
NM_004566.4
p.I242V
c.724A>G
1 paper
NM_004566.4
p.P246A
c.736C>G
1 paper
NM_004566.4
p.C252Y
c.755G>A
1 paper
NM_004566.4
p.G255D
c.764G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."